Canonical Allele Identifier: CA2487047542

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747642_236747646delinsCTTTA , CM000663.2:g.236747642_236747646delinsCTTTA	GRCh38
NC_000001.10:g.236910942_236910946delinsCTTTA , CM000663.1:g.236910942_236910946delinsCTTTA	GRCh37
NC_000001.9:g.234977565_234977569delinsCTTTA	NCBI36
NG_009081.1:g.66173_66177delinsCTTTA
NG_009081.2:g.88502_88506delinsCTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1407-25_1407-21delinsCTTTA	ENSP00000443495.1:n.1407-25_1407-21delins...
ENST00000492634.7:n.1337-25_1337-21delinsCTTTA
ENST00000682015.1:c.1314-25_1314-21delinsCTTTA	ENSP00000506961.1:n.1314-25_1314-21delins...
ENST00000682692.1:n.1154-25_1154-21delinsCTTTA
ENST00000682966.1:n.7048-25_7048-21delinsCTTTA
ENST00000683111.1:c.*693-25_*693-21delinsCTTTA	ENSP00000507913.1:n.*693-25_*693-21delins...
ENST00000683322.1:n.2759-25_2759-21delinsCTTTA
ENST00000684050.1:n.4045-25_4045-21delinsCTTTA
ENST00000684286.1:n.2962-25_2962-21delinsCTTTA
ENST00000684502.1:n.1356-25_1356-21delinsCTTTA
ENST00000366578.6:c.1407-25_1407-21delinsCTTTA MANE Select	ENSP00000355537.4:n.1407-25_1407-21delins...
ENST00000492634.6:n.1337-25_1337-21delinsCTTTA
ENST00000542672.6:c.1407-25_1407-21delinsCTTTA	ENSP00000443495.1:n.1407-25_1407-21delins...
ENST00000651091.1:c.1097-25_1097-21delinsCTTTA	ENSP00000498677.1:n.1097-25_1097-21delins...
ENST00000651275.1:c.1299-25_1299-21delinsCTTTA	ENSP00000498926.1:n.1299-25_1299-21delins...
ENST00000651781.1:c.487-25_487-21delinsCTTTA
ENST00000651786.1:c.*779-25_*779-21delinsCTTTA	ENSP00000498364.1:n.*779-25_*779-21delins...
ENST00000652096.1:c.*812-25_*812-21delinsCTTTA	ENSP00000498896.1:n.*812-25_*812-21delins...
ENST00000366578.5:c.1407-25_1407-21delinsCTTTA	ENSP00000355537.4:n.1407-25_1407-21delins...
ENST00000542672.5:c.1407-25_1407-21delinsCTTTA	ENSP00000443495.1:n.1407-25_1407-21delins...
ENST00000546208.5:c.783-25_783-21delinsCTTTA	ENSP00000438384.2:n.783-25_783-21delinsCT...
NM_001103.3:c.1407-25_1407-21delinsCTTTA	NP_001094.1:n.1407-25_1407-21delinsCTTTA
NM_001278343.1:c.1407-25_1407-21delinsCTTTA	NP_001265272.1:n.1407-25_1407-21delinsCTT...
NM_001278344.1:c.783-25_783-21delinsCTTTA	NP_001265273.1:n.783-25_783-21delinsCTTTA...
NM_001278343.2:c.1407-25_1407-21delinsCTTTA	NP_001265272.1:n.1407-25_1407-21delinsCTT...
NM_001103.4:c.1407-25_1407-21delinsCTTTA MANE Select	NP_001094.1:n.1407-25_1407-21delinsCTTTA
NM_001278344.2:c.783-25_783-21delinsCTTTA	NP_001265273.1:n.783-25_783-21delinsCTTTA...